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van den Bergen, Jocelyn A
121  results:
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1

Generation of a homozygous (MCRIi031-A-3) WT1 knockout huma..:

Pachernegg, Svenja ; Robevska, Gorjana ; Ferreira, Lucas G.A....
Stem Cell Research.  79 (2024)  - p. 103494 , 2024
Link: https://doi.org/10.1016/..
 
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2

A Human Homozygous HELQ Missense Variant Does Not Cause Pre..:

Bakhshalizadeh, Shabnam ; Bird, Anthony D. ; Sreenivasan, Rajini...
Genes.  15 (2024)  3 - p. 333 , 2024
Link: https://doi.org/10.3390/..
 
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3

Generation of heterozygous (MCRIi031-A-1) and homozygous (M..:

Pachernegg, Svenja ; Robevska, Gorjana ; G. A. Ferreira, Lucas...
Stem Cell Research.  79 (2024)  - p. 103484 , 2024
Link: https://doi.org/10.1016/..
 
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4

Biallelic FANCA variants detected in sisters with isolated ..:

Tucker, Elena J. ; Sharp, Michael F. ; Lokchine, Anna...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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5

Generation of heterozygous (MCRIi030-A-1) and homozygous (M..:

Ferreira, Lucas G.A. ; Cabral-da-Silva, Mauricio C. ; Pachernegg, Svenja...
Stem Cell Research.  76 (2024)  - p. 103374 , 2024
Link: https://doi.org/10.1016/..
 
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6

Diverse genetic causes of amenorrhea in an ethnically homog..:

Bakhshalizadeh, Shabnam ; Afkhami, Fateme ; Bell, Katrina M....
Molecular and Cellular Endocrinology.  587 (2024)  - p. 112212 , 2024
Link: https://doi.org/10.1016/..
 
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7

Author Correction: Variants in SART3 cause a spliceosomopat..:

Ayers, Katie L. ; Eggers, Stefanie ; Rollo, Ben N....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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8

Deficiency of the mitochondrial ribosomal subunit, MRPL50, ..:

Bakhshalizadeh, Shabnam ; Hock, Daniella H. ; Siddall, Nicole A....
Human Genetics.  142 (2023)  7 - p. 879-907 , 2023
Link: https://doi.org/10.1007/..
 
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9

Variants in SART3 cause a spliceosomopathy characterised by..:

Ayers, Katie L. ; Eggers, Stefanie ; Rollo, Ben N....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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10

Premature Ovarian Insufficiency in CLPB Deficiency: Transcr..:

Tucker, Elena J ; Baker, Megan J ; Hock, Daniella H...
The Journal of Clinical Endocrinology & Metabolism.  107 (2022)  12 - p. 3328-3340 , 2022
Link: https://doi.org/10.1210/..
 
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11

Whole exome sequencing reveals copy number variants in indi..:

Sreenivasan, Rajini ; Bell, Katrina ; van den Bergen, Jocelyn...
Molecular and Cellular Endocrinology.  546 (2022)  - p. 111570 , 2022
Link: https://doi.org/10.1016/..
 
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12

Integral Role of the Mitochondrial Ribosome in Supporting O..:

Kline, Brianna L. ; Jaillard, Sylvie ; Bell, Katrina M....
Genes.  13 (2022)  11 - p. 2113 , 2022
Link: https://doi.org/10.3390/..
 
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13

FGF9 variant in 46,XY DSD patient suggests a role for dimer..:

Croft, Brittany ; Bird, Anthony D. ; Ono, Makoto...
Clinical Genetics.  103 (2022)  3 - p. 277-287 , 2022
Link: https://doi.org/10.1111/..
 
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14

Dominant TP63 missense variants lead to constitutive activa..:

Tucker, Elena J. ; Gutfreund, Niklas ; Belaud‐Rotureau, Marc‐Antoine...
Human Mutation.  43 (2022)  10 - p. 1443-1453 , 2022
Link: https://doi.org/10.1002/..
 
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15

Functional genomics analysis identifies loss ofHNF1Bfunctio..:

Thomson, Ella ; Tran, Minh ; Robevska, Gorjana...
Human Molecular Genetics.  32 (2022)  6 - p. 1032-1047 , 2022
Link: https://doi.org/10.1093/..
 
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